2817 Late onset SELENON-related myopathy presenting with severe respiratory failure
2817 Late onset SELENON-related myopathy presenting with severe respiratory failure
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Publisher
London: BMJ Publishing Group Ltd
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Language
English
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London: BMJ Publishing Group Ltd
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Contents
Multiminicore disease is the second commonest form of congenital core myopathy, caused by autosomal recessive gene mutations in SELENON, MYH2, TTN, CCDC78 or MYH7.1 Though there is some clinical heterogeneity, the classical form is associated with predominant axial weakness and usually presents as a neonate or in the first year of life.CaseA 39-yea...
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Full title
2817 Late onset SELENON-related myopathy presenting with severe respiratory failure
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TN_cdi_proquest_journals_2921220345
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2921220345
Other Identifiers
E-ISSN
2632-6140
DOI
10.1136/bmjno-2023-ANZAN.160
